E选择素基因多态性与蒙古族、汉族原发性高血压的病例对照研究

Relationship between E-selectin gene polymorphism and essential hypertension in Mongolian and Han population:a case-control study

目的高血压是由遗传和环境因素共同作用而引发的多因素疾病,它是常见的心血管疾病,同时也是中风和缺血性心脏病的重要危险因素,本研究预探讨E选择素(SELE)基因在蒙古族、汉族原发性高血压中的作用。方法采用病例—对照研究和标签SNP(tagSNP)方法采集内蒙古自治区锡林郭勒盟蒙古族标本429例,汉族标本416例作为研究对象,采用高温连接酶检测反应进行基因分型并构建单体型。结果 SELE基因共挑选9个tagSNP位点,在汉族人群中,SELE基因rs3917458和rs2179172位点等位基因频率在高血压组和正常血压组间差异有统计学意义,其余位点的等位基因频率和基因型频率在两民族高血压和正常血压组间的分布均差异无统计学意义。单体型分析显示:在蒙古族人群,单体型GGC的频率在高血压组和正常血压组之间差异有统计学意义,在汉族人群中,单体型ACA和单体型TCC频率在高血压组和正常血压组之间差异均有统计学意义。结论SELE基因rs2179172和rs3917458位点在汉族高血压组和正常血压组间有差异;携带单体型GGC的蒙古族个体形成高血压的风险增加,携带单体型ACA的汉族个体形成高血压的风险降低,而携带单体型TCC的汉族个体形成高血压的风险会增加。

Objective Hypertension is a complex disease resulted from the interaction of cumulative effects from multiple genetic and environmental factors. It is the most common cardiovascular disease threatening human health. In this study, we intended to investigate the association of E-selectin （SELE） gene polymorphism with essential hypertension（EH） in Mongolian and Han population in Xilin Gol League. Methods Referring to the Chinese data in HapMap project, we conducted a case-control study, which included 429 Mongolian people and 416 Han people in Xilin Gol League. The genotyping was performed using the polymerase chain reaction（PCR）/ligase detection reaction assay, and then haplotype assays were conducted. Results Nine tagSNPs in SELE gene were chosen, following the Chinese data in HapMap project. In the Han population, the distribution of genotype and allele frequencies of rs3917458 and rs2179172 of SELE gene differed significantly between the EH group and the contl＇ol group （P ~ 0.05）. The distributions of genotype and allele frequencies of other SNPs in SELE gene showed no significant difference between the EH group and the control group in both Mongolian and Han population. The frequencies of haplotype GGC in SELE gene in the EH group was significantly higher than that in the control group in Mongolian population. The frequencies of haplotype ACA in SELE gene in EH group was significantly lower than that in the control group in Han population, whereas haplotype TCC had significantly higher frequency in the EH group than in the control group. Conclusion rs2179172 and rs3917458 of SELE gene are different between the EH group and the control group in Han population. The haplotype GGC of SELE is associated with hypertension in Mongolian population, indicating the individuals who possess the GGC haplotype have a higher risk of EH. The haplotype ACA and TCC of SELE are associated with hypertension in Han population, indicating the individuals possessing ACA haplotype have a lower risk of EH whereas the individuals possessing TCC haplotype have a higher risk of EH.